ClinVar for MedGen (Select 815417) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367126	NM_145038.5(DRC1):c.1196G>A (p.Trp399Ter)	DRC1 (W399*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 21	GLikely pathogenic
Select item 2504575	NM_145038.5(DRC1):c.1009C>T (p.Gln337Ter)	DRC1 (Q337*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 2428723	NM_145038.5(DRC1):c.116G>C (p.Arg39Pro)	DRC1 (R39P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 21	GUncertain significance
Select item 2045269	NM_145038.5(DRC1):c.765+15C>T	DRC1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 21 +1 more	GLikely benign
Select item 1627791	NM_145038.5(DRC1):c.2166+16_2166+17insA	DRC1	Insertion (intron variant)	Primary ciliary dyskinesia 21 +1 more	GBenign
Select item 1374288	NM_145038.5(DRC1):c.1391G>A (p.Arg464His)	DRC1 (R464H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 21 +1 more	GUncertain significance
Select item 1172761	NC_000002.12:g.26398040_26425787del	DRC1, LOC129933333	Deletion	Primary ciliary dyskinesia 21	GPathogenic
Select item 1034291	NM_145038.5(DRC1):c.1976del (p.Ser659fs)	DRC1 (S659fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 21	GPathogenic
Select item 948125	NM_145038.5(DRC1):c.2079_2086del (p.Arg694fs)	DRC1 (R694fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 21 +1 more	GUncertain significance
Select item 695946	NM_145038.5(DRC1):c.1124G>A (p.Arg375His)	DRC1 (R375H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 663966	NM_145038.5(DRC1):c.109dup (p.Gln37fs)	DRC1 (Q37fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 21 +2 more	GPathogenic/Likely pathogenic
Select item 525424	NM_145038.5(DRC1):c.1599+1G>A	DRC1	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 21 +1 more	GLikely pathogenic
Select item 525352	NM_145038.5(DRC1):c.2190_2193dup (p.Thr732fs)	DRC1 (T732fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 21 +2 more	GUncertain significance
Select item 525259	NM_145038.5(DRC1):c.2075C>G (p.Thr692Ser)	DRC1 (T692S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 21 +1 more	GConflicting classifications of pathogenicity
Select item 454988	NM_145038.5(DRC1):c.2223A>C (p.Ter741Cys)	DRC1	Single nucleotide variant (stop lost)	Primary ciliary dyskinesia 21 +1 more	GBenign/Likely benign
Select item 454984	NM_145038.5(DRC1):c.1913A>C (p.Lys638Thr)	DRC1 (K638T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 414289	NM_145038.5(DRC1):c.992C>T (p.Thr331Ile)	DRC1 (T331I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 21 +2 more	GBenign/Likely benign
Select item 414283	NM_145038.5(DRC1):c.1067C>T (p.Ala356Val)	DRC1 (A356V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 21 +2 more	GBenign
Select item 407102	NM_145038.5(DRC1):c.1418C>T (p.Ala473Val)	DRC1 (A473V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 21 +3 more	GUncertain significance
Select item 407099	NM_145038.5(DRC1):c.421T>G (p.Trp141Gly)	DRC1 (W141G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 402796	NM_145038.5(DRC1):c.1069A>G (p.Lys357Glu)	DRC1 (K357E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 21 +3 more	GBenign
Select item 262566	NM_145038.5(DRC1):c.495T>G (p.Ala165=)	DRC1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 262565	NM_145038.5(DRC1):c.1397-15A>G	DRC1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 262564	NM_145038.5(DRC1):c.1195T>C (p.Trp399Arg)	DRC1 (W399R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 241940	NM_145038.5(DRC1):c.36G>C (p.Pro12=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 55840	NM_145038.5(DRC1):c.352C>T (p.Gln118Ter)	DRC1 (Q118*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +2 more	GPathogenic/Likely pathogenic
Select item 55839	NM_145038.5(DRC1):c.2056A>T (p.Lys686Ter)	DRC1 (K686*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 21	GPathogenic

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Items: 27